SNP Shot: Genomic Insights

Polycythemia vera is a disorder where the body produces too many red blood cells. It can also lead to an overproduction of white blood cells and platelets, the cells responsible for blood clotting. This excess of cells thickens the blood, increasing the likelihood of abnormal blood clots forming and obstructing blood flow in arteries and veins. Consequently, individuals with polycythemia vera face a higher risk of deep vein thrombosis (DVT), a blood clot that forms in deep veins, typically in the arms or legs. If a DVT breaks loose and travels to the lungs, it can cause a pulmonary embolism (PE), a potentially fatal condition. Furthermore, the risk of heart attack and stroke, due to blood clots in the heart and brain, is also elevated in those with polycythemia vera.

Polycythemia vera usually manifests in adulthood, around age 60, but can rarely occur in children and young adults. The condition may initially be asymptomatic. Some individuals with polycythemia vera may experience headaches, dizziness, tinnitus (ringing in the ears), vision problems, or itchy skin. The increased number of red blood cells often causes the skin to appear flushed or reddened. Other potential complications include an enlarged spleen (splenomegaly), stomach ulcers, gout (a type of arthritis caused by uric acid buildup), heart disease, and leukemia (cancer of blood-forming cells).

Inheritance:

Most cases of polycythemia vera are not hereditary. Instead, they are linked to somatic genetic mutations, meaning they are acquired during life and are not present in all cells of the body. However, in rare situations, polycythemia vera can occur in families. In some of these families, there appears to be an autosomal dominant inheritance pattern, suggesting that having just one copy of an altered gene in each cell is enough to increase the risk of developing polycythemia vera. However, the underlying cause of these familial cases remains unknown. In these families, individuals appear to inherit a predisposition to developing polycythemia vera, rather than the disease itself.